Amaaoune Fatima, Chakiri Radia
Department of Dermatology, Faculty of Medicine and Pharmacy, Ibn Zohr University, Agadir, Morocco.
Ann Med Surg (Lond). 2022 Mar 9;76:103496. doi: 10.1016/j.amsu.2022.103496. eCollection 2022 Apr.
Congenital skin aplasia, or aplasia cutis congenita (ACC), is a rare congenital anomaly. The incidence is estimated to be between 0.5 and 1 in 10,000 births. We report an observation of ACC of the limbs in a female newborn at D3 of life.
Female newborn at D3 of life, born at term by vaginal delivery with a birth weight of 2, 900kg. The general examination revealed a hemodynamically and respiratorily stable and apyretic newborn. The dermatological examination noted the presence of translucent exulcerations on both wrists, the inner side of the left knee, and the distal end of the left leg. In view of this clinical aspect, the diagnosis of ACC was evoked. The management was to hospitalize the newborn in a neonatology unit, do a biological check-up with a -fontanelle ultrasound, echocardiography, and abdominal ultrasound, associated with daily care.
Many hypotheses have been put forward to explain the pathophysiological mechanism of CCA, whether isolated or associated with other anomalies. However, at present, the origin of this malformation remains unknown. There is no unambiguous management in the initial phase, as it depends on the type of CCA.
Because of the different possible clinical presentations and existing syndromic associations, it can be thought that it corresponds to a phenotypic expression of various origins, which may be interrelated.
先天性皮肤发育不全，即先天性皮肤缺损（ACC），是一种罕见的先天性异常。据估计，其发病率为每10000例出生中0.5至1例。我们报告了一例出生后第3天的女新生儿肢体先天性皮肤缺损的病例。
出生后第3天的女新生儿，足月顺产，出生体重2900千克。全身检查显示该新生儿血流动力学和呼吸稳定，无发热。皮肤科检查发现双腕、左膝内侧和左腿远端存在半透明溃疡。鉴于此临床症状，考虑先天性皮肤缺损的诊断。处理措施是将新生儿收治入新生儿科病房，进行包括囟门超声、超声心动图和腹部超声在内的生物学检查，并给予日常护理。
关于先天性皮肤缺损（无论是孤立性还是与其他异常相关）的病理生理机制，已经提出了许多假说。然而，目前这种畸形的起源仍然未知。在初始阶段没有明确的处理方法，因为这取决于先天性皮肤缺损的类型。
由于可能存在不同的临床表现以及现有的综合征关联，可以认为它对应于多种起源的表型表达，这些起源可能相互关联。
